Gdactose l-phosphate uridyl transferase found in galactoseadapted yeast by Kalckar et al. (l), catalyzes the following reaction: UDP-glucose + galactose*-1-P ti UDP-galactose + glucose-1-P. A method for partial purification of galactose l-phosphate uridyl transferase from calf liver and application of this enzyme to the determination of galactose l-phosphate have been described (2). In the latt...

An association between the N314D polymorphism of galactose-1-phosphate uridyl transferase and endometriosis has recently been reported in a North American population. To determine whether such an association exists in the UK population, we genotyped 148 women with sporadic (n = 91) or familial (n = 57) endometriosis, a control population of 95 male blood donors and a control group of 53 women w...

We have monitored two pregnancies from families at risk for galactosaemia. The fetus was diagnosed as having galactosaemia in one and to be unaffected in the other. The accuracy of the predictions was confirmed postnatally. Assays for galactose 1-phosphate uridyl transferase involving the reduction of the coenzymes NAD or NADP are unsuitable for amniotic cells whereas estimation of (14)C-UDP-ga...

A baby presented on day 5 with symptoms of classical galactosaemia which are believed to be owing to a lack of uridine diphosphate-4-epimerase, rather than to the usual galactose-1-phosphate uridyl transferase defect. Apart from galactosaemia the condition was characterised biochemically by a red cell accumulation of galactose-1-phosphate and uridine diphosphate galactose. Galactose restriction...

Galactose-1-phosphate uridyl transferase (GALT) deficiency causes classical galactosemia in humans. Mice deficient in this enzyme were created by gene targeting. GALT-deficient mice develop biochemical features similar to those seen in humans with GALT deficiency, but fail to develop the pattern of acute toxicity seen in newborns with classical galactosemia. This study suggests that alternative...

We investigated an osmotic remedial mutant of Saccharomyces which was deficient in galactose-1-phosphate uridyl transferase. Both the rate of growth and the transferase activity of the mutant culture were dependent on the osmotic activity of the growth medium. Organic and ionic solutes proved to be equally effective in inducing the osmotic remedial response. The galactose pathway enzymes were s...

The gal3 mutation of Saccharomyces, which is associated with an impairment in the utilization of galactose, has been shown to be pleiotropic, causing similar impairments in the utilization of melibiose and maltose. Milibiose utilization and alpha-galactosidase production are directly controlled by the galactose regulatory elements i, c, and GAL4. The fermentation of maltose and the induction of...

background:  in this survey we studied the  incidence and clinical  p resentations of  galactosemia in fars province, in south  w est of iran .  galactosemia is a rare genetic metabolic disorder  of galactose.   its  metabolism can be  performed  through 3 pathways.  although  enzymes  deficiency of each of them  can lead to galactose accumulation in plasma, the term galactosemia  is specifical...